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Autosomal recessive nonsyndromic hearing loss 62(DFNB62)

MedGen UID:
387916
Concept ID:
C1857820
Disease or Syndrome
Synonym: Deafness, autosomal recessive 62
 
Monarch Initiative: MONDO:0012418
OMIM®: 610143

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23. [from MONDO]

Clinical features

From HPO
Prelingual sensorineural hearing impairment
MedGen UID:
867432
Concept ID:
C4021806
Disease or Syndrome
A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC
Ear Hear 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. PMID: 19125024

Recent clinical studies

Etiology

Yen TT, Chen IC, Cho S, Chang TG, Shih KH, Hua MW, Li JL, Hsu CY, Hsiao TH, Chen YM
Ear Hear 2023 Nov-Dec 01;44(6):1423-1429. Epub 2023 Jun 5 doi: 10.1097/AUD.0000000000001384. PMID: 37271870
Kim BJ, Han JH, Park HR, Kim MY, Kim AR, Oh SH, Park WY, Oh DY, Lee S, Choi BY
J Gene Med 2018 Jun;20(6):e3019. Epub 2018 Apr 30 doi: 10.1002/jgm.3019. PMID: 29607572
Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC
Ear Hear 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. PMID: 19125024

Diagnosis

Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC
Ear Hear 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. PMID: 19125024
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

Prognosis

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
Am J Hum Genet 2010 Mar 12;86(3):479-84. Epub 2010 Feb 18 doi: 10.1016/j.ajhg.2010.02.003. PMID: 20170898Free PMC Article

Clinical prediction guides

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Kim BJ, Han JH, Park HR, Kim MY, Kim AR, Oh SH, Park WY, Oh DY, Lee S, Choi BY
J Gene Med 2018 Jun;20(6):e3019. Epub 2018 Apr 30 doi: 10.1002/jgm.3019. PMID: 29607572
Mahdieh N, Mahmoudi H, Ahmadzadeh S, Bakhtiyari S
Eur Arch Otorhinolaryngol 2016 May;273(5):1161-5. Epub 2015 Jun 10 doi: 10.1007/s00405-015-3684-8. PMID: 26059209
Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
Am J Hum Genet 2010 Mar 12;86(3):479-84. Epub 2010 Feb 18 doi: 10.1016/j.ajhg.2010.02.003. PMID: 20170898Free PMC Article
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

Recent systematic reviews

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article

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